Variant information


Systematic Name c.965C>T
Protein name p.Pro322Leu
Mutation type missense
Domain C-term
Pathogenicity Unknown

Proband information


Source of DNA Blood
Detection direct
Extent all exons
Number of chromosomes checked
Carrier status checked N
Carrier result
Other mutations
X-inactivation results
X-inactivation relatives
Gender Female
Sporadic/Familial sporadic
Phenotype-class Rett syndrome-classical
Reference :::

Matching entries in the proband database


No: Systematic Name Protein name Mutation type Domain Pathogenicity Gender Phenotype Proband id References
1 c.965C>T p.Pro322Leu Missense C-term Unknown Female Rett syndrome-Not certain 79 MeCP2 mutations in children with and without the phenotype of Rett Syndrome:Hoffbuhr, K., Devaney, J. M., LaFleur, B., Sirianni, N., Scacheri, C., Giron, J., Schuette, J., Innis, J., Marino, M., Philippart, M., Narayanan, V., Umansky, R., Kronn, D., Hoffman, E. P., and Naidu, S.:Neurology: 11402105
2 c.965C>T p.Pro322Leu Missense C-term Unknown Female Rett syndrome-Classical 2178 :Cardiff, UK::
3 c.965C>T p.Pro322Leu Missense C-term Unknown Female Rett syndrome-Classical 2424 :::
4 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-classical 2818 Diagnostic mutational analysis of MECP2 in Korean patients with Rett syndrome:Kim, I.-J., Kim, Y.-J., Son, B.-H., Nam, S.-O., Kang, H.-C., Kim, H.-D., Yoo, M.-A., Choi, O.-H., Kim, C.-M.:Experimental and Molecular Medicine: 16672765
5 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-not certain 3165 Spectrum and distribution of MECP2 mutations in 424 Rett syndrome patients: a molecular update:Philippe C, Villard L, de Roux N, Raynaud M, Bonnefond JP, Pasquier L, Lesca G, Mancini J, Jonveaux P, Moncla A, Chelly J, Bienvenu T:European Journal of Medical Genetics: 16473305
6 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-not certain 3564 MECP2 and CDKL5 gene mutation analysis in Chinese patients with Rett syndrome:Li, M.-R., Pan, H., Bao, X.-H., Zhang, Y.-Z., Wu, X.-R.:Journal of Human Genetics: 17089071
7 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-Classical 4287 Genotype-phenotype correlation in Brazillian Rett syndrome patients:de Lima, F.T., Brunoni, D., Schwartzman, J.S., Pozzi, M.C., Kok, F., Juliano, Y., Pereira, L.V.:Arq Neuropsiquiatr: 19722030
8 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-classical 6349 :::
9 c.965C>T p.Pro322Leu missense C-term Unknown Female Rett syndrome-classical 6348 :::